Holger Prokisch

63PUBLICATIONS
438CO-AUTHORS
Infant and child healthMolecular evolutionMedical infection agents (incl. prions)Gene mappingNeurology and neuromuscular diseases
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Publications (63)

|Jun 16, 2026
Genetic screening of children for familial hypercholesterolaemia: the VRONI study.

|Apr 25, 2026
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.

|Jan 15, 2026
Clinical and Genotypic Spectrum of Twinkle-Related Disorders: Insights From a Multinational Cohort Study.

Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock

|Dec 17, 2025
Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.

Kohta Nakamura, Yoshihito Kishita, Ayumu Sugiura

|Oct 01, 2025
The Diverse Neuromuscular Spectrum of VPS13A Disease.

Anne Buchberger, Evamaria Riedel, Marie Hackenberg

|Jul 22, 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction.

Kohta Nakamura, Yoshihito Kishita, Atsuko Imai-Okazaki

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Frequent Collaborators

6 joint publications

Julien Gagneur

5 joint publications

Vicente A Yépez

5 joint publications

Johannes A Mayr

4 joint publications

Christian Gieger